Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 31 34
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C4020949 Abnormal emotion/affect behavior phenotype Behavior and Behavior Mechanisms Pathologic Function Abnormality of the nervous system 3 13
C0266015 Congenital digestive system anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality Abnormality of the digestive system 2 5